ClinVar for MedGen (Select 482411) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245523	NC_000008.10:g.(?_11351220)_(11710963_?)dup	BLK, CTSB +3 more	Duplication	Atrioventricular septal defect 4	GUncertain significance
Select item 3245522	NC_000008.10:g.(?_11565822)_(11615984_?)del	GATA4	Deletion	Atrioventricular septal defect 4	GPathogenic
Select item 3019607	NM_001308093.3(GATA4):c.797G>A (p.Arg266His)	GATA4 (R59H +2 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 3014238	NM_001308093.3(GATA4):c.1198G>C (p.Val400Leu)	GATA4 (V151L +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 3013481	NM_001308093.3(GATA4):c.858T>C (p.Asn286=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2995424	NM_001308093.3(GATA4):c.532G>A (p.Ala178Thr)	GATA4 (A178T)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2991305	NM_001308093.3(GATA4):c.832A>G (p.Thr278Ala)	GATA4 (T278A +2 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2967408	NM_001308093.3(GATA4):c.191G>A (p.Gly64Glu)	GATA4 (G64E)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GLikely pathogenic
Select item 2920054	NM_001308093.3(GATA4):c.501C>G (p.Ala167=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2919681	NM_001308093.3(GATA4):c.1150-14T>C	GATA4	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2919190	NM_001308093.3(GATA4):c.681G>A (p.Pro227=)	GATA4	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2918053	NM_001308093.3(GATA4):c.200C>T (p.Ser67Leu)	GATA4 (S67L)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2917817	NM_001308093.3(GATA4):c.1065C>T (p.Thr355=)	GATA4	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2916444	NM_001308093.3(GATA4):c.1150-8C>T	GATA4	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2914183	NM_001308093.3(GATA4):c.448G>C (p.Gly150Arg)	GATA4 (G150R)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2913906	NM_001308093.3(GATA4):c.205G>T (p.Gly69Cys)	GATA4 (G69C)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2912283	NM_001308093.3(GATA4):c.1000+17_1000+18del	GATA4	Microsatellite (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2912058	NM_001308093.3(GATA4):c.852C>G (p.Arg284=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2911272	NM_001308093.3(GATA4):c.175G>A (p.Ala59Thr)	GATA4 (A59T)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2909470	NM_001308093.3(GATA4):c.67C>T (p.Pro23Ser)	GATA4 (P23S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2909014	NM_001308093.3(GATA4):c.603A>G (p.Arg201=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2907334	NM_001308093.3(GATA4):c.400A>G (p.Ser134Gly)	GATA4 (S134G)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2905193	NM_001308093.3(GATA4):c.438C>G (p.Arg146=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2904223	NM_001308093.3(GATA4):c.317C>G (p.Pro106Arg)	GATA4 (P106R)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2903180	NM_001308093.3(GATA4):c.342C>T (p.Thr114=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2899467	NM_001308093.3(GATA4):c.404G>T (p.Gly135Val)	GATA4 (G135V)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2899161	NM_001308093.3(GATA4):c.451C>A (p.Arg151Ser)	GATA4 (R151S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2896922	NM_001308093.3(GATA4):c.781C>T (p.Arg261Trp)	GATA4 (R261W +2 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2891702	NM_001308093.3(GATA4):c.179G>C (p.Gly60Ala)	GATA4 (G60A)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2885442	NM_001308093.3(GATA4):c.786+10T>G	GATA4	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2884178	NM_001308093.3(GATA4):c.416C>T (p.Ala139Val)	GATA4 (A139V)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2873693	NM_001308093.3(GATA4):c.369T>G (p.Ala123=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +1 more	GLikely benign
Select item 2872599	NM_001308093.3(GATA4):c.912+19C>T	GATA4	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2869811	NM_001308093.3(GATA4):c.525A>T (p.Ala175=)	GATA4	Single nucleotide variant (intron variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2867261	NM_001308093.3(GATA4):c.912+7G>C	GATA4	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2863535	NM_001308093.3(GATA4):c.276G>A (p.Ala92=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2859314	NM_001308093.3(GATA4):c.548C>T (p.Pro183Leu)	GATA4 (P183L)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2844752	NM_001308093.3(GATA4):c.639A>C (p.Ser213=)	GATA4	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2842166	NM_001308093.3(GATA4):c.1198G>T (p.Val400Phe)	GATA4 (V151F +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2834960	NM_001308093.3(GATA4):c.923C>T (p.Pro308Leu)	GATA4 (P307L +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2829924	NM_001308093.3(GATA4):c.456C>T (p.Ala152=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2820525	NM_001308093.3(GATA4):c.887G>C (p.Cys296Ser)	GATA4 (C296S +2 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GPathogenic
Select item 2818464	NM_001308093.3(GATA4):c.125C>T (p.Pro42Leu)	GATA4 (P42L)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2815615	NM_001308093.3(GATA4):c.601C>A (p.Arg201=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2815097	NM_001308093.3(GATA4):c.1178A>T (p.His393Leu)	GATA4 (H186L +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2812933	NM_001308093.3(GATA4):c.655_656del (p.Val219fs)	GATA4 (V12fs +2 more)	Microsatellite (frameshift variant)	Atrioventricular septal defect 4	GPathogenic
Select item 2812302	NM_001308093.3(GATA4):c.270C>T (p.Ser90=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +1 more	GLikely benign
Select item 2807445	NM_001308093.3(GATA4):c.65G>T (p.Gly22Val)	GATA4 (G22V)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2807418	NM_001308093.3(GATA4):c.275C>A (p.Ala92Glu)	GATA4 (A92E)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2789917	NM_001308093.3(GATA4):c.635_637del (p.Phe212del)	GATA4 (F5del +2 more)	Deletion (inframe_deletion)	Atrioventricular septal defect 4	GUncertain significance
Select item 2787990	NM_001308093.3(GATA4):c.1136G>A (p.Ser379Asn)	GATA4 (S379N +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2787572	NM_001308093.3(GATA4):c.236G>C (p.Gly79Ala)	GATA4 (G79A)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2787543	NM_001308093.3(GATA4):c.368C>G (p.Ala123Gly)	GATA4 (A123G)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2784138	NM_001308093.3(GATA4):c.63C>G (p.Gly21=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2782635	NM_001308093.3(GATA4):c.617-13C>T	GATA4	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2770380	NM_001308093.3(GATA4):c.1178A>C (p.His393Pro)	GATA4 (H392P +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2768218	NM_001308093.3(GATA4):c.1147C>G (p.Gln383Glu)	GATA4 (Q176E +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2763753	NM_001308093.3(GATA4):c.1175G>C (p.Gly392Ala)	GATA4 (G185A +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2762955	NM_001308093.3(GATA4):c.516C>T (p.Ser172=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2756792	NM_001308093.3(GATA4):c.290C>T (p.Ala97Val)	GATA4 (A97V)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2754493	NM_001308093.3(GATA4):c.1112T>G (p.Leu371Arg)	GATA4 (L122R +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2752494	NM_001308093.3(GATA4):c.367G>C (p.Ala123Pro)	GATA4 (A123P)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2752218	NM_001308093.3(GATA4):c.923C>G (p.Pro308Arg)	GATA4 (P101R +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GPathogenic
Select item 2747193	NM_001308093.3(GATA4):c.912+4C>A	GATA4	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2742951	NM_001308093.3(GATA4):c.413C>T (p.Ala138Val)	GATA4 (A138V)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2741370	NM_001308093.3(GATA4):c.1296C>G (p.Val432=)	GATA4	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2736118	NM_001308093.3(GATA4):c.1150-3C>G	GATA4	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2735120	NM_001308093.3(GATA4):c.307C>G (p.Pro103Ala)	GATA4 (P103A)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2733391	NM_001308093.3(GATA4):c.360_374dup (p.Ala126_Arg127insAlaAlaAlaAlaAla)	GATA4	Duplication (inframe_insertion +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2731807	NM_001308093.3(GATA4):c.786+9G>A	GATA4	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2730951	NM_001308093.3(GATA4):c.182C>T (p.Ser61Phe)	GATA4 (S61F)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2728732	NM_001308093.3(GATA4):c.638C>T (p.Ser213Leu)	GATA4 (S212L +2 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2727563	NM_001308093.3(GATA4):c.692G>A (p.Arg231Gln)	GATA4 (R230Q +2 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2725703	NM_001308093.3(GATA4):c.1150-20del	GATA4	Deletion (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2722426	NM_001308093.3(GATA4):c.629A>T (p.Asp210Val)	GATA4 (D3V +2 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2718970	NM_001308093.3(GATA4):c.259C>G (p.Pro87Ala)	GATA4 (P87A)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2718117	NM_001308093.3(GATA4):c.70G>A (p.Gly24Ser)	GATA4 (G24S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2715722	NM_001308093.3(GATA4):c.1027C>T (p.Pro343Ser)	GATA4 (P136S +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2714533	NM_001308093.3(GATA4):c.1224A>G (p.Pro408=)	GATA4	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2713689	NM_001308093.3(GATA4):c.913-3C>T	GATA4	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2713389	NM_001308093.3(GATA4):c.500C>T (p.Ala167Val)	GATA4 (A167V)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2712923	NM_001308093.3(GATA4):c.678C>A (p.Thr226=)	GATA4	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2711491	NM_001308093.3(GATA4):c.409G>T (p.Gly137Ter)	GATA4 (G137*)	Single nucleotide variant (nonsense +1 more)	Atrioventricular septal defect 4	GPathogenic
Select item 2707525	NM_001308093.3(GATA4):c.853C>T (p.Arg285Cys)	GATA4 (R284C +2 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2704530	NM_001308093.3(GATA4):c.24C>T (p.Ala8=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2703831	NM_001308093.3(GATA4):c.221C>A (p.Ala74Asp)	GATA4 (A74D)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2697204	NM_001308093.3(GATA4):c.11G>A (p.Ser4Asn)	GATA4 (S4N)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2697050	NM_001308093.3(GATA4):c.561G>T (p.Pro187=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2695007	NM_001308093.3(GATA4):c.912+11C>T	GATA4	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2694444	NM_001308093.3(GATA4):c.1149+15T>G	GATA4	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2692839	NM_001308093.3(GATA4):c.243G>C (p.Gly81=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2637134	NM_001308093.3(GATA4):c.1210C>A (p.Leu404Met)	GATA4 (L155M +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 2586860	NM_001308093.3(GATA4):c.607C>T (p.Pro203Ser)	GATA4 (P203S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 2579496	NM_001308093.3(GATA4):c.106C>T (p.Pro36Ser)	GATA4 (P36S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 2566794	NM_001308093.3(GATA4):c.830C>G (p.Thr277Ser)	GATA4 (T277S +2 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 2566793	NM_001308093.3(GATA4):c.253G>T (p.Gly85Cys)	GATA4 (G85C)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 2561113	NM_001308093.3(GATA4):c.1017G>A (p.Glu339=)	GATA4	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 4 +1 more	GLikely benign
Select item 2523916	NM_001308093.3(GATA4):c.1243G>C (p.Val415Leu)	GATA4 (V166L +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 2452498	NM_001308093.3(GATA4):c.309G>T (p.Pro103=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +1 more	GLikely benign
Select item 2447169	NM_001308093.3(GATA4):c.561G>A (p.Pro187=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +1 more	GLikely benign

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